Genomic Tool Supports Analysis of Repeat Expansions Linked to Inherited Disorders

Analysis may need to capture not only expansion size but also how expansion sizes are distributed within alleles. A newly launched analysis pipeline now uses electronic genome mapping data to investigate disease-associated repeat expansions.

Nabsys (Nabsys 2.0, LLC; Providence, RI, USA) has released RepX, a repeat expansion analysis pipeline available through the Nabsys Navigator cloud platform. RepX uses Electronic Genome Mapping (EGM) data generated on the OhmX Platform. The pipeline is designed to investigate disease-associated repeat expansions using data produced by the company’s standard workflow.

EGM analyzes individual ultra-long DNA molecules without amplification or ligation. This approach avoids biases associated with those processes and enables researchers to examine the distribution of expansion sizes. It also supports investigation of repeat instability within each allele, providing single-molecule information relevant to repeat expansion research.

Because RepX runs on data from the standard OhmX VOLT Whole Genome Kit, the same dataset can support genome-wide structural variant and copy number variant analyses. Within Nabsys Navigator, RepX joins SV-Discover for genome-wide structural variant analysis and SV-Verify for confirmation of structural variants identified by other technologies. The platform also includes integrated visualization tools to support these analyses.

Nabsys will demonstrate RepX and Nabsys Navigator during the American Society of Human Genetics (ASHG) 2026 Annual Meeting, taking place October 20-24 in Montréal, Canada. The company’s five posters include “CRISPR/Cas9 Customization of Electronic Genome Mapping Repeat Expansion Assays” and the Reviewers’ Choice poster “CRISPR/Cas9 Optimization by Electronic Genome Mapping.” The OhmX Platform, Nabsys Navigator, and RepX are for Research Use Only and are not for use in diagnostic procedures.

“Repeat expansion research benefits from understanding not just expansion size, but how it varies within an allele. RepX pairs those EGM single-molecule insights with the potential for low-cost, multi-locus analysis—advancing our goal of making single-molecule genomics accessible to every lab,” said Barrett Bready, M.D., founder and CEO of Nabsys.

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